Canonical Allele Identifier: CA413917698

Gene: BTK

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101349935A>G , CM000685.2:g.101349935A>G	GRCh38
NC_000023.10:g.100604923A>G , CM000685.1:g.100604923A>G	GRCh37
NC_000023.9:g.100491579A>G	NCBI36
NG_009616.1:g.41290T>C , LRG_128:g.41290T>C
NG_011734.1:g.4035T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000061.3:c.1930T>C MANE Select	NP_000052.1:p.Phe644Leu
ENST00000308731.8:c.1930T>C MANE Select	ENSP00000308176.8:p.Phe644Leu
NM_000061.2:c.1930T>C , LRG_128t1:c.1930T>C	NP_000052.1:p.Phe644Leu
NM_001287344.1:c.2032T>C	NP_001274273.1:p.Phe678Leu
NM_001287344.2:c.2032T>C	NP_001274273.1:p.Phe678Leu
NM_001287345.1:c.1402T>C	NP_001274274.1:p.Phe468Leu
NM_001287345.2:c.1402T>C	NP_001274274.1:p.Phe468Leu
ENST00000308731.7:c.1930T>C	ENSP00000308176.7:p.Phe644Leu
ENST00000372880.5:c.1402T>C	ENSP00000361971.1:p.Phe468Leu
ENST00000478995.2:n.3447T>C
ENST00000488970.2:n.4086T>C
ENST00000618050.4:c.1929T>C	ENSP00000479125.1:n.1929T>C
ENST00000621635.4:c.2032T>C	ENSP00000483570.1:p.Phe678Leu
ENST00000695614.1:c.1930T>C	ENSP00000512053.1:p.Phe644Leu
ENST00000695615.1:c.1930T>C	ENSP00000512054.1:p.Phe644Leu
ENST00000695616.1:c.*1775T>C	ENSP00000512055.1:n.*1775T>C
ENST00000695617.1:c.1927T>C	ENSP00000512056.1:p.Phe643Leu
ENST00000695618.1:c.*1679T>C	ENSP00000512058.1:n.*1679T>C
ENST00000695619.1:c.*1640T>C	ENSP00000512059.1:n.*1640T>C
ENST00000695620.1:c.*1856T>C	ENSP00000512060.1:n.*1856T>C
ENST00000695621.1:c.*355T>C	ENSP00000512061.1:n.*355T>C
ENST00000695622.1:c.1867T>C	ENSP00000512062.1:p.Phe623Leu
ENST00000695623.1:c.1924T>C	ENSP00000512063.1:p.Phe642Leu
ENST00000695624.1:n.1235T>C
ENST00000695625.1:c.1897T>C	ENSP00000512064.1:p.Phe633Leu
ENST00000695626.1:c.685T>C	ENSP00000512065.1:n.685T>C
ENST00000695627.1:c.878T>C	ENSP00000512066.1:n.878T>C
ENST00000695628.1:c.489T>C	ENSP00000512067.1:n.489T>C
ENST00000695629.1:c.370T>C	ENSP00000512068.1:p.Phe124Leu
ENST00000695630.1:c.657T>C
ENST00000695631.1:c.191T>C
ENST00000703407.1:c.1402T>C	ENSP00000512057.1:p.Phe468Leu